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Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations
  1. Lyailya Kh Dzhemlikhanova1,2,
  2. Olga A Efimova1,2,
  3. Natalia S Osinovskaya1,
  4. Sergey E Parfenyev2,
  5. Dariko A Niauri1,2,
  6. Iskender Yu Sultanov1,
  7. Olga V Malysheva1,
  8. Anna A Pendina1,2,
  9. Natalia Yu Shved1,
  10. Tatyana E Ivashchenko1,
  11. Maria I Yarmolinskaya1,
  12. Maka I Kakhiani1,
  13. Ekaterina A Gorovaya2,
  14. Antonina N Tkachenko3,
  15. Vladislav S Baranov1,2
  1. 1D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia
  2. 2St. Petersburg State University, St. Petersburg, Russia
  3. 3Maternity Hospital of St. Petersburg №6, St. Petersburg, Russia
  1. Correspondence to Dr Olga A Efimova, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, St. Petersburg 199034, Russia; efimova_o82{at}mail.ru

Abstract

Aims To study the possible association of catechol-O-methyltransferase (COMT) Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check whether the COMT Val/Val genotype is associated with MED12 exon 2 mutations in fibroids.

Methods The COMT Val158Met allele and genotype frequencies were compared between age-matched women with ULs (n=104) and controls (n=59). Patients with UL were subcategorised by diagnosis of solitary (n=59) or multiple (n=45) fibroids and by the presence of somatic MED12 exon 2 mutations in at least one fibroid (n=32) or in neither fibroid (n=26). The association of COMT Val/Val genotype with the presence of any ULs, solitary/multiple ULs and ULs positive/negative for MED12 exon 2 mutations was evaluated by χ2 tests using a dominant genotype model (G/G vs G/A+A/A) and expressed as ORs and 95% CIs.

Results The COMT Val/Val genotype frequency did not differ between the patients with UL and the controls (28.8% vs 18.6%, p=0.149, OR 1.77; CI 0.81 to 3.86). However, it was significantly higher in the patients who had multiple UL compared with the solitary UL (40% vs 20.3%, p=0.028, OR 2.61; CI 1.09 to 6.24) and to the controls (40% vs 18.6%, p=0.016, OR 2.91; CI 1.20 to 7.06). No association of the COMT Val/Val genotype with UL-specific MED12 exon 2 mutations was found (p=0.662, OR 0.77; CI 0.23 to 2.53).

Conclusions Women with COMT Val/Val genotype are at high risk of developing multiple uterine fibroids either positive or negative for MED12 exon 2 mutations. These data are important to design new strategies for UL prophylaxis and treatment.

  • UTERUS
  • GENETICS
  • HORMONE
  • FERTILITY

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